Varaico: Literature-Extracted Genetic Variants

ATM

7,296 papers

RefSeq Summary

The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variet...

Pfam Domains

TANaa 8–112UCSCTelomere-length maintenance and DNA damage repair

TANaa 8–165UCSCTelomere-length maintenance and DNA damage repair

FATaa 2096–2489UCSCFAT domain

PI3_PI4_kinaseaa 2713–2962UCSCPhosphatidylinositol 3- and 4-kinase

FATCaa 3025–3056UCSCFATC domain

Gene Aliases

HGNC Name

ATM serine/threonine kinase

HGNC Previous Symbols

ATA; ATDC; ATC; ATD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000051.4

p.Q414H

c.1242G>C

Surrounding Variants

2 papers

NM_000051.4

p.Q414H

c.1242G>T

1 paper

NM_000051.4

p.I415insFs

c.1244_1245dupTT

1 paper

NM_000051.4

p.I415_A416insFs

c.1245_1246ins5

1 paper

NM_000051.4

p.I415_A416insFs

c.1245_1246ins10

3 papers

NM_000051.4

p.I415F

c.1243A>T

1 paper

NM_000051.4

p.Q414L

c.1241A>T

5 papers

NM_000051.4

p.Q414K

c.1240C>A

11 papers

NM_000051.4

p.Q414*

c.1240C>T

1 paper

NM_000051.4

p.I415N

c.1244T>A

1 paper

NM_000051.4

p.I415T

c.1244T>C

1 paper

NM_000051.4

p.I415S

c.1244T>G

1 paper

NM_000051.4

p.L413L

c.1239A>C